Lipolysis and lipophagy in lipid storage myopathies.

ABSTRACT:

Aims

Triglycerides droplets are massively stored in muscle in Lipid Storage Myopathies (LSM). We studied in muscle regulators of lipophagy, the expression of the transcription factor-EB (TFEB) (a master regulator of lysosomal biogenesis), and markers of autophagy which are induced by starvation and exert a transcriptional control on lipid catabolism.

Methods

We investigated the factors that regulate lipophagy in muscle biopsies from 6 patients with different types of LSM: 2 cases of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD), 1 case of primary carnitine deficiency (CD), 2 cases of neutral lipid storage myopathy (NLSD-M), 1 case of carnitine-palmitoyl-transferase-II (CPT) deficiency.

Results

Conventional morphology and electron microscopy d

SUBMITTER: Angelini C 

PROVIDER: S-EPMC4879869 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature